Orphanet: Pyruvate dehydrogenase phosphatase deficiency

(*) Required fields.

You are (*)

If you have selected the “Other” category, please specify which type of user you are: *

Email address: *

Topic of your comment *

Epidemiology data

Clinical signs

Nomenclature and/or coding

Your message *

(3000 characters remaining)

Attention

Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.

Orphanet doesn't provide personalised answers. To get in touch with the Orphanet team, please contact

Information provided in your contribution (including your email address) will be stocked in .CSV files that will be sent as an email to Orphanet's teams. These emails might be conserved in the teams' mailboxes, in our backoffice servers but will not be registered in our databases (for more information see our section General Data Protection Regulation and data privacy (GDPR) and Confidentiality).

Check this box if you wish to receive a copy of your message

Please reproduce the text below: *

Pyruvate dehydrogenase phosphatase deficiency

Disease definition

Pyruvate dehydrogenase phosphatase deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by lactic acidemia in the neonatal period.

ORPHA:79246

Classification level: Subtype of disorder

Synonym(s):
- PDH phosphatase deficiency
Prevalence: Unknown
Inheritance: Autosomal recessive
Age of onset: Infancy, Neonatal
ICD-10: E74.4
OMIM: 608782
UMLS: C1837429
MeSH: C536258
GARD: 9888
MedDRA: -

Summary

Epidemiology

Prevalence is unknown but this form of PDHD appears to be very rare, with only three patients reported.

Clinical description

All three patients presented in the newborn period with lactic acidosis and hypotonia. Two siblings from one family have had a prolonged course on a ketogenic diet, surviving into teenage years with exercise intolerance and mild developmental delay. The third patient died at age 6 months.

Etiology

The disorder is caused by mutations in the PDP1 gene (8q22.1) encoding pyruvate dehyrogenase phosphatase isoform 1, an enzyme which regulates the activity of the pyruvate dehydrogenase complex.

Genetic counseling

The pattern of inheritance is autosomal recessive.

Expert reviewer(s): Dr Garry BROWN - Last update: August 2012

The portal for rare diseases and orphan drugs

Search for a rare disease

Other search option(s)

Topic of your comment *

Your message *

Attention

Pyruvate dehydrogenase phosphatase deficiency

ORPHA:79246

Summary

Epidemiology

Clinical description

Etiology

Genetic counseling

Article for general public

Professionals

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services